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Mitochondrial cytopathy

disorder
SNOMED 240096000CUI C2931928

Overview

Mitochondrial cytopathy is a disorder. There are currently 4 actively recruiting clinical trials.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Clinical Trials

9
Total Trials
4
Recruiting
2
With Results

Recent Trials

The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism

NCT01780168Recruiting500 enrolled

Mitochondrial Substrate Utilization in the Diabetic Human Heart

NCT05958706Recruiting500 enrolled

Validation of Nanosensor Oxygen Measurement

NCT06819683Phase 1Recruiting96 enrolled

Validation of Oxygen Nanosensor in Mitochondrial Myopathy

NCT04086329Phase 1Recruiting24 enrolled

MEXIDOL® Sequential Therapy of Patients With Primary Open-angle Glaucoma (POAG)

NCT06437639Phase 4Completed80 enrolled
View all 9 trials on ClinicalTrials.gov

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Adrenocortical insufficiency
HP:0008207
Ataxia
HP:0001251
Basal ganglion calcification
HP:0002135
Cardiac arrhythmias
HP:0011675
De toni-fanconi-debre syndrome
HP:0001994
Decreased body height
HP:0004322
Decreased size of cranium
HP:0000252
Diabetes mellitus
HP:0000819
Disease of the heart muscle
HP:0001638
Elevated csf protein
HP:0002922
External ophthalmoplegia, progressive
HP:0000590
Eye drop
HP:0000508
Hypersideremic anemia
HP:0001924
Hypoparathyroidism
HP:0000829
Lacticacidosis
HP:0003128
Muscle weakness
HP:0001324
Pigmentary retinal deposits
HP:0000580
Progressive dementia
HP:0000726
Ragged-red muscle fibers
HP:0003200
Renal tubular acidosis
HP:0001947
Seizures
HP:0001250
Sensorineural deafness
HP:0000407
Sensory neuropathy
HP:0000763
Third-degree heart block
HP:0001709

Related Conditions

Kearns-Sayre syndrome(child)
Leber's optic atrophy(child)
Cytochrome-c oxidase deficiency(child)
Mitochondrial myopathy(child)
Childhood myocerebrohepatopathy spectrum(child)
Mitochondrial metabolism defect(child)
Deficiency of ubiquinone cytochrome c oxidoreductase(child)
Autosomal dominant optic atrophy plus syndrome(child)
Maternally inherited mitochondrial dystonia(child)
Zellweger-like syndrome without peroxisomal anomaly(child)
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3(child)
Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome(child)
Maternally inherited cardiomyopathy and deafness(child)
Infantile onset spinocerebellar ataxia(child)
Combined oxidative phosphorylation defect type 5(child)
Autosomal recessive ataxia due to ubiquinone deficiency(child)
Demyelination of central nervous system co-occurrent and due to mitochondrial disease(child)
Epileptic encephalopathy with global cerebral demyelination(child)
Combined oxidative phosphorylation defect type 8(child)
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation syndrome(child)

Quick Facts

SNOMED CT
240096000
UMLS CUI
C2931928
Fully Specified Name
Mitochondrial cytopathy (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
24
Clinical Trials
9
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.